Genopathy
Gene-Disorder Association · Article
Gene
PAK1
P21 (RAC1) Activated Kinase 1
Disorder
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
First reported 2000
Supporting publications 4
Key publication · disorder Structure of PAK1 in an autoinhibited conformation reveals a multistage activation switch.Cell · 2000
Manually curated
Association Review

In brief

The association between PAK1 (P21 (RAC1) Activated Kinase 1) and Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 32
Symptoms 35
Compounds 0
Trials 0
Publications 4
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PAK1

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay

The disorder

5 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

22 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

32 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

4 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

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